Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 11 | 35171082 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 4 | 991150 | missense variant | G/A | snv | 2.5E-04 | 1.6E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 4 | 991538 | missense variant | C/T | snv | 5.6E-04 | 6.0E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 4 | 989866 | missense variant | G/A | snv | 2.8E-04 | 3.1E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 3 | 186618238 | intron variant | T/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.160 | 3 | 186618387 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 20 | 7926296 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 20 | 7919281 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 20 | 7932295 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 20 | 7890075 | intron variant | C/T | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 20 | 7939957 | intron variant | A/G | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 20 | 7904537 | intron variant | C/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 20 | 7888809 | intron variant | T/C | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 20 | 7912993 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 35158104 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 35153498 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 35150575 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 11 | 35166644 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 35163005 | intron variant | A/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 35169898 | intron variant | C/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 35179369 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 35170732 | intron variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 35170667 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 20 | 7882896 | downstream gene variant | A/G | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 20 | 7916402 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2014 | 2014 |